Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
Proceedings of the National Academy of Sciences, 1997•National Acad Sciences
In an unprecedented finding, Davis et al.[Davis, RE, Miller, S., Herrnstadt, C., Ghosh, SS,
Fahy, E., Shinobu, LA, Galasko, D., Thal, LJ, Beal, MF, Howell, N. & Parker, WD, Jr.(1997)
Proc. Natl. Acad. Sci. USA 94, 4526–4531] used an unusual DNA isolation method to show
that healthy adults harbor a specific population of mutated mitochondrial cytochrome c
oxidase (COX) genes that coexist with normal mtDNAs. They reported that this
heteroplasmic population was present at a level of 10–15% in the blood of normal …
Fahy, E., Shinobu, LA, Galasko, D., Thal, LJ, Beal, MF, Howell, N. & Parker, WD, Jr.(1997)
Proc. Natl. Acad. Sci. USA 94, 4526–4531] used an unusual DNA isolation method to show
that healthy adults harbor a specific population of mutated mitochondrial cytochrome c
oxidase (COX) genes that coexist with normal mtDNAs. They reported that this
heteroplasmic population was present at a level of 10–15% in the blood of normal …
In an unprecedented finding, Davis et al. [Davis, R. E., Miller, S., Herrnstadt, C., Ghosh, S. S., Fahy, E., Shinobu, L. A., Galasko, D., Thal, L. J., Beal, M. F., Howell, N. & Parker, W. D., Jr. (1997) Proc. Natl. Acad. Sci. USA 94, 4526–4531] used an unusual DNA isolation method to show that healthy adults harbor a specific population of mutated mitochondrial cytochrome c oxidase (COX) genes that coexist with normal mtDNAs. They reported that this heteroplasmic population was present at a level of 10–15% in the blood of normal individuals and at a significantly higher level (20–30%) in patients with sporadic Alzheimer’s disease. We provide compelling evidence that the DNA isolation method employed resulted in the coamplification of authentic mtDNA-encoded COX genes together with highly similar COX-like sequences embedded in nuclear DNA (“mtDNA pseudogenes”). We conclude that the observed heteroplasmy is an artifact.
National Acad Sciences
